Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24965 | 75118;75119;75120 | chr2:178571239;178571238;178571237 | chr2:179435966;179435965;179435964 |
| N2AB | 23324 | 70195;70196;70197 | chr2:178571239;178571238;178571237 | chr2:179435966;179435965;179435964 |
| N2A | 22397 | 67414;67415;67416 | chr2:178571239;178571238;178571237 | chr2:179435966;179435965;179435964 |
| N2B | 15900 | 47923;47924;47925 | chr2:178571239;178571238;178571237 | chr2:179435966;179435965;179435964 |
| Novex-1 | 16025 | 48298;48299;48300 | chr2:178571239;178571238;178571237 | chr2:179435966;179435965;179435964 |
| Novex-2 | 16092 | 48499;48500;48501 | chr2:178571239;178571238;178571237 | chr2:179435966;179435965;179435964 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs201512527  |
-0.263 | None | N | 0.106 | 0.114 | 0.134241683229 | gnomAD-2.1.1 | 9.93489E-04 | None | None | None | None | N | None | 0 | 7.63747E-04 | None | 1.63538E-02 | 0 | None | 0 | None | 0 | 5.71259E-04 | 1.2644E-03 |
| Q/H | rs201512527 |
-0.263 | None | N | 0.106 | 0.114 | 0.134241683229 | gnomAD-3.1.2 | 8.15285E-04 | None | None | None | None | N | None | 1.20662E-04 | 5.90396E-04 | 0 | 1.78777E-02 | 0 | None | 0 | 0 | 6.3226E-04 | 0 | 2.39006E-03 |
| Q/H | rs201512527 |
-0.263 | None | N | 0.106 | 0.114 | 0.134241683229 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| Q/H | rs201512527 |
-0.263 | None | N | 0.106 | 0.114 | 0.134241683229 | gnomAD-4.0.0 | 9.06086E-04 | None | None | None | None | N | None | 1.06661E-04 | 7.83647E-04 | None | 1.67624E-02 | 0 | None | 0 | 0 | 6.76479E-04 | 0 | 1.80898E-03 |
| Q/R | None | None | 0.024 | N | 0.122 | 0.102 | 0.154104182512 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1274 | likely_benign | 0.1259 | benign | -0.278 | Destabilizing | 0.031 | N | 0.245 | neutral | None | None | None | None | N |
| Q/C | 0.4078 | ambiguous | 0.4195 | ambiguous | -0.133 | Destabilizing | 0.864 | D | 0.303 | neutral | None | None | None | None | N |
| Q/D | 0.1248 | likely_benign | 0.1398 | benign | -0.08 | Destabilizing | None | N | 0.086 | neutral | None | None | None | None | N |
| Q/E | 0.0659 | likely_benign | 0.0668 | benign | -0.046 | Destabilizing | None | N | 0.077 | neutral | N | 0.374254386 | None | None | N |
| Q/F | 0.4738 | ambiguous | 0.4814 | ambiguous | -0.378 | Destabilizing | 0.214 | N | 0.382 | neutral | None | None | None | None | N |
| Q/G | 0.1424 | likely_benign | 0.1431 | benign | -0.505 | Destabilizing | 0.031 | N | 0.222 | neutral | None | None | None | None | N |
| Q/H | 0.1352 | likely_benign | 0.1329 | benign | -0.123 | Destabilizing | None | N | 0.106 | neutral | N | 0.450544443 | None | None | N |
| Q/I | 0.3129 | likely_benign | 0.3154 | benign | 0.25 | Stabilizing | 0.136 | N | 0.413 | neutral | None | None | None | None | N |
| Q/K | 0.1065 | likely_benign | 0.1033 | benign | -0.034 | Destabilizing | 0.024 | N | 0.171 | neutral | N | 0.444386475 | None | None | N |
| Q/L | 0.1061 | likely_benign | 0.1043 | benign | 0.25 | Stabilizing | 0.055 | N | 0.262 | neutral | N | 0.473362588 | None | None | N |
| Q/M | 0.2579 | likely_benign | 0.2483 | benign | 0.106 | Stabilizing | 0.628 | D | 0.287 | neutral | None | None | None | None | N |
| Q/N | 0.1104 | likely_benign | 0.1197 | benign | -0.519 | Destabilizing | 0.016 | N | 0.133 | neutral | None | None | None | None | N |
| Q/P | 0.3245 | likely_benign | 0.3509 | ambiguous | 0.102 | Stabilizing | 0.106 | N | 0.275 | neutral | N | 0.500202472 | None | None | N |
| Q/R | 0.1157 | likely_benign | 0.115 | benign | 0.17 | Stabilizing | 0.024 | N | 0.122 | neutral | N | 0.446157344 | None | None | N |
| Q/S | 0.1198 | likely_benign | 0.1231 | benign | -0.524 | Destabilizing | 0.031 | N | 0.149 | neutral | None | None | None | None | N |
| Q/T | 0.1379 | likely_benign | 0.1354 | benign | -0.327 | Destabilizing | 0.031 | N | 0.219 | neutral | None | None | None | None | N |
| Q/V | 0.1809 | likely_benign | 0.1787 | benign | 0.102 | Stabilizing | 0.136 | N | 0.258 | neutral | None | None | None | None | N |
| Q/W | 0.4778 | ambiguous | 0.4877 | ambiguous | -0.393 | Destabilizing | 0.864 | D | 0.305 | neutral | None | None | None | None | N |
| Q/Y | 0.2621 | likely_benign | 0.2726 | benign | -0.107 | Destabilizing | 0.038 | N | 0.344 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.